FISH in spermatozoa for the segregation study for chromosomal rearrangements

MONOGENIC DISEASES

Informativity Study for monogenic diseases

PGD for monogenic diseases (*)

(*) Currently the Genetics Laboratory at Institut Marquès can study more than 200 monogenic diseases (see Annex 6). This list is constantly evolving; if a causative gene is discovered then the tools to complete Preimplantation Genetic Diagnosis on carrier embryos can be created.

THE GENETIC STUDY OF OOCYTES

PGD 5 chromosomes in oocytes by means of polar body biopsy

MALE INFERTILITY STUDIES

The study of meiosis in testes

Sperm FISH 5 chromosomes (X, Y, 13, 18, 21)

DNA fragmentation test

Male infertility study (Sperm FISH / DNA Fragmentation)

GENETIC SCREENING (Patients and donors of gametes)

Screening for Cystic Fibrosis (50 mutations* + Tn polymorphism) Screening of the most common CFTR gene mutations. * This test is also able to detect, although not identify, 155 insertions or deletions in the CFTR gene

Screening for Fragile XAmplification of the CGG repeat in the FMR1 gene, and quantification of the number of repeats (for normal alleles and premutations).

Thrombofilia screening*Detection of Factor V Leyden (G1961A), the G20210A mutation (Factor II, the Prothrombin gene) and theC677T mutation in the MTHFR gene. *This test allows us to distinguish between hetero and homozygotic carriers of all these mutations

OTHER SERVICES

Embryo biopsy and fixation/tubing of blastomeres (done by the staff of the Genetics Laboratory at Institut Marquès)

Biopsy and fixation/tubing of polar bodies(done by the staff of the Genetics Laboratory at Institut Marquès)

Fixation/tubing of blastomeres(done by the staff of the Genetics Laboratory at Institut Marquès)

Fixation/tubing of polar bodies(done by the staff of the Genetics Laboratory at Institut Marquès)

Genetics advisory service for centres for reproduction

Genetics advisory service for patients

Training in embryo biopsy and fixation of blastomeres for professionals

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